Navigation Links
In Rare Disorder, a Familiar Protein Disrupts Gene Function
Date:5/27/2009

matids -- the long strands that chromosomes form when they copy their DNA.

However, said Krantz, one open question in biology has been, "What does cohesin do when cells are not dividing?" His team's paper provides part of the answer, as the first study in human cells to identify genes that are dysregulated when cohesin doesn't work properly. Cohesin's role in dysregulation of gene expression (regulating the degree to which specific genes are turned on or off) has attracted considerable scientific interest with a recent discovery that it may also be implicated in cancer.

The current study builds on previous work by Krantz, who in 2004 co-led the study that discovered NIPBL, the first gene known to cause CdLS. Krantz partnered with his long-time collaborator, Laird S. Jackson, M.D., of Drexel University School of Medicine in Philadelphia. They discovered a second CdLS gene in 2007, and together they maintain the world's largest database of patients with CdLS.

In the current study, Krantz did a genome-wide analysis of mutant cell lines from 16 patients with severe CdLS. All the cells had mutations in the NIPBL gene, which plays a role in moving cohesin onto and off chromosomes.

The researchers used DNA microarrays, manufactured chips that measure how strongly different genes are expressed throughout a cell's full complement of DNA. The study team identified hundreds of genes that were dysregulated compared to controls, and also detected gene expression profiles that were unique to CdLS. Importantly, said Krantz, the expression levels of genes corresponded to the severity of the disease. The team replicated its findings in 101 additional samples.

"We found that gene expression is exquisitely regulated by cohesin and the NIBPL gene," said Krantz. "The gene expression patterns we found have great potential to be used in a diagnostic tool for Cornelia de La
'/>"/>

SOURCE The Children's Hospital of Philadelphia
Copyright©2009 PR Newswire.
All rights reserved

Page: 1 2 3 4

Related medicine technology :

1. Adlyfe Study on the Detection of Misfolded Proteins Published in the Journal Transfusion
2. CEL-SCI Presents Data for CEL-1000 as a Vaccine Adjuvant with Recombinant Hepatitis B Virus Protein
3. Study Published in Endocrinology Reports Potential of Modigene Technology to Extend Duration of Protein Drugs
4. Study Suggests Soy Protein May Reduce Prostate Cancer Risk
5. Vical Demonstrates Dose-sparing of Protein-based H5N1 Influenza Vaccine With Vaxfectin(TM) Adjuvant
6. Exelixis Reports Top-Line Results of the Phase 2 Trial of XL784 in Patients With Proteinuria Associated With Diabetic Nephropathy
7. First High-Res 3-D Structures of Mammalian HSP90 Protein Solved, Key to Better Targets for AIDS, Sepsis, Cancer Drugs
8. The New England Journal of Medicine Publishes First Clinical Results for MedImmunes Chitinase-like Protein YKL-40 in Patients With Asthma
9. VioQuest Pharmaceuticals Announces Dosing of First Patient in Phase IIa Solid Tumor Study for Lenocta(TM), a Novel Protein Tyrosine Phosphatase Inhibitor
10. Neptune Industries Reports Favorable Phase II Trial Results on Ento- Protein(TM)
11. Fundamental Applied Biology, Inc. Is Awarded SBIR Phase IIB Grant for the Commercialization of Protein Therapeutics Using Cell Free Technology
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:9/19/2014)... Research and Markets has announced the addition of the ... Disorder) Market - Forecast to 2023" report to their ... human microbiome market is segmented by application, disease, product, and ... be valued as $294 million in 2019 and is poised ... period of 2019-2023. The market is driven by growing incidences ...
(Date:9/19/2014)... UBM Medica US announces that  ... help oncologists and other clinicians gain a better understanding ... targeted therapies and immunotherapies, discusses some of the latest ... Every September, Blood Cancer Awareness Month ... blood cancers—helping to increase survival rates and improve the ...
(Date:9/19/2014)... WALTHAM, Mass. , Sept. 19, 2014  Alere ... in rapid diagnostics, issued the following statement today in ... Combating Antibiotic-Resistant Bacteria. "As the global leader ... President for establishing a national strategy to address the ... continuing to work with the Administration on initiatives to ...
Breaking Medicine Technology:Global Human Microbiome (Diabetes, Obesity, Autoimmune, Cancer, Diarrhea, Mental Disorder) Market - Forecast to 2023 2Global Human Microbiome (Diabetes, Obesity, Autoimmune, Cancer, Diarrhea, Mental Disorder) Market - Forecast to 2023 3OncoTherapy Network Highlights National Blood Cancer Awareness Month 2OncoTherapy Network Highlights National Blood Cancer Awareness Month 3OncoTherapy Network Highlights National Blood Cancer Awareness Month 4Alere Applauds President's Executive Order Combating Antibiotic-Resistant Bacteria 2
(Date:9/19/2014)... kids transition from elementary to middle school, they are ... study. But the researchers studying U.S schoolkids ... physical bullying declines as students get older. Because ... address all types of bullying as well as differences ... The study was published recently in School Psychology ...
(Date:9/19/2014)... 19, 2014 Hastings and Hastings, a discount ... the industry, announces a record number of visitors to its ... variety of serious injury cases as well as auto accident ... bite related accident cases and others. Having served the state ... stood the test of time when it comes to dedicated ...
(Date:9/19/2014)... Rockville Centre, NY (PRWEB) September 19, 2014 ... 17, the manufacturers of the embattled blood-thinner Xarelto, named ... County Court of Common Pleas, have moved the court ... the cases do not have sufficient connection with Philadelphia.* ... & Development, et al. (No. 140304328; Pa. Comm. Pls., ...
(Date:9/19/2014)... -- Your brain structure could help predict how willing you ... Researchers at Yale University found those with greater volume in ... may be more likely to engage in risky behavior than ... study, funded by the U.S. National Institute on Aging, involved ... the Northeast. The researchers sought to determine how brain structure ...
(Date:9/19/2014)... 2014 (HealthDay News) -- The U.S. Food and Drug Administration ... Trulicity is part of a class of once-a-week injectable drugs ... 2 diabetes. "Trulicity is a new treatment option, ... regimens to control blood sugar levels in the overall management ... the FDA,s Office of Drug Evaluation II, said in an ...
Breaking Medicine News(10 mins):Health News: Cyberbullying Seems to Ramp Up in Middle School 2Health News:Hastings And Hastings Announces a Record Number of Visitors to Its New Phoenix Personal Injury Website 2Health News:Xarelto Makers Seek Dismissal of Cases Brought in Philadelphia, Notes Rottenstein Law Group LLP 2Health News:Xarelto Makers Seek Dismissal of Cases Brought in Philadelphia, Notes Rottenstein Law Group LLP 3Health News:Brain Structure Might Help Predict Risky Behavior 2Health News:FDA Approves Another Weekly Injectable Drug for Type 2 Diabetes 2
... child filed a motion in federal court today to confirm settlement ... The family alleged in the suit that the insurer wrongfully ... (ASD), on the baseless ground that the care was "experimental." ... at a court-ordered conference on Wednesday, June 17, 2009, Blue Cross ...
... between gray matter and dopamine levels in patients , ... levels of the neurotransmitter dopamine may explain brain gray ... study suggests. , Previous research found an association between ... wasn,t known, the researchers wrote. , In this new ...
... treatment delays and jeopardize care, review suggests, , FRIDAY, June ... lecturer at the University of Toronto, was enjoying a rare ... beeped. , "I answered the page, and there was the ... been calling repeatedly to try to get in touch with ...
... , Brio Active opens its doors this month, offering a ... its core. , , DENVER, June 19 Brio ... vibration, a relatively new fitness concept in the U.S., with ... strength, flexibility, balance, energy, bone density, and neuromuscular coordination. ...
... 19 Bertalan Mesko, medical blogger and health 2.0 consultant, ... by Federico Semeraro, MD and the D-Sign Team, that provides ... but not everyone is trained to be able to perform ... to do it through clear instructions and images. , ...
... WHITE PLAINS, N.Y., June 19 Kenneth A. May, former CEO ... Trustees of the March of Dimes, it was announced today. , ... for our mission, especially our Prematurity Campaign," said Dr. Jennifer L. ... Ken,s continued leadership as we work towards our goal of giving ...
Cached Medicine News:Health News:Blue Cross Blue Shield of Michigan Forced to Pay for Autism Care In Landmark Case 2Health News:Blue Cross Blue Shield of Michigan Forced to Pay for Autism Care In Landmark Case 3Health News:Pages to Doctors Don't Always Hit the Mark 2Health News:Pages to Doctors Don't Always Hit the Mark 3Health News:Brio Active Brings Whole Body Vibration Fitness to Cherry Hills Village 2
Each handle is designed to fit a specific trephine size....
Each handle is designed to fit a specific trephine size....
Reusable, stainless steel trephine with handle....
Reusable, stainless steel trephine with handle....
Medicine Products: